Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L846_E847del1
Back to variants list

ATP7B

NM_000053.4:p.L846_E847del1

Associated Papers

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus.

Lin Q et al.

Frontiers in Genetics, 2025

40201566 (PubMed )
Supplement: Table1.xlsx › family2

Variants in the ZNF469 gene in families with Brittle cornea syndrome and keratoconus.

Lin Q et al.

Heliyon, 2024

38439828 (PubMed )
Supplement: mmc1.xlsx › ____
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."